Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Precision Medicine Center, |
RCV002251411 | SCV001593023 | likely pathogenic | Familial juvenile hyperuricemic nephropathy type 1 | criteria provided, single submitter | research | PM1:Located in well-established functional domain PM2:not found in gnomAD PP2:Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease PP3:Multiple lines of computational evidence support a deleterious effect on the gene or gene product |